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New cause identified for children and adults with joint, skeletal and skin problems

Scientists from The University of Manchester and Central
Manchester University Hospitals NHS Foundation Trust have
identified the cause of a rare condition called Leri's
pleonosteosis (LP).

Dr Sid Banka (a former Manchester BRC Clinical Fellow) from the
Manchester Centre for Genomic Medicine at Saint Mary's Hospital,
led a team of researchers on the study which was published in
Annals of Rheumatic Diseases journal last week (18th January
2014).

LP is an inherited condition in which children are born with
contractures of multiple joints and then develop difficulty of
joint movements that progress in severity with age. The research
team showed that extra genetic material on chromosome number 8
caused the condition in two families from Manchester. Some patients
with LP also develop thickening of their skin, similar to that seen
in patients with a more common disorder called scleroderma. Using
their new knowledge, the research team showed that the genetic
cause of LP is linked to whether people get scleroderma or not.

This work opens opportunities to understand scleroderma and
explore new treatments.